Multisystem Connective Tissue Disease Flashcards
(83 cards)
1
Q
What is SLE?
A
Common autoimmune condition directed at a range of tissues
-unknown aetiology
2
Q
What systems are involved in SLE?
A
Skin (75%) CNS (60%) Pulmonary (50%) Renal (30%) Cardiac (25%) Oral mucosal (20%) Haematological MSK
3
Q
What is the most common feature of SLE?
A
Fatigue
4
Q
What are the skin features of SLE?
A
Chronic discoid LE -red, scaly plaque on face/scalp Malar rash -symmetrical, raised erythematous rash across cheeks/bridge of nose Photosensitivity reactions Alopecia
5
Q
What are the oral mucosal features of SLE?
A
Superficial erosions/ulcers
6
Q
What are the CNS features of SLE?
A
Non-organic disorders (depression/anxiety)
Organic brain disorders (tonic-clonic epilepsy)
Vascular occlusion & infarction w/ APL syndrome
7
Q
What are the renal features of SLE?
A
Glomerular disease
- follows many patterns
- commonly interstitial nephritis
8
Q
What are the haematological features of SLE?
A
Thrombocytopenia
Leukopenia
AI haemolytic anaemia
-normocytic hypochromic anaemia
9
Q
What are the MSK features of SLE?
A
Arthritis (90%)
-begins in fingers, wrists & knees
Myalgia (50%)
10
Q
What are the pulmonary features of SLE?
A
Recurrent pleurisy & pleural effusions
Pulmonary fibrosis
11
Q
What are the cardiac features of SLE?
A
Pericarditis
-rarer lesions are aortic valve lesions/cardiomyopathy
Atherosclerotic risk
12
Q
What bloods are appropriate in suspected SLE?
A
FBC (normo hypo anaemia, thrombocytopenia, leukopenia) ESR/CRP (raised) U&Es Serum ANA/RF Anti-dsDNA RNa antibodies (anti Ro/anti-La) Serum complement levels APL antibodies
13
Q
What investigations are appropriate in suspected SLE?
A
Bloods
Urine dip/BP
Histology (fibrinoid necrosis)
14
Q
What are the management options for SLE?
A
Avoid excessive sunlight/CV risk factors
Monitor for signs of infection/treat early
MILD DISEASE
-NSAIDs & hydroxychloroquine
SEVERE DISEASE
-Prednisolone w/ DMARDs (azathioprine)
15
Q
What is Antiphospholipid Syndrome?
A
Presence of autoantibodies that have a specificity for phospholipids
- thrombotic tendeny
- can be 1o or occur 2o to SLE
16
Q
What are the common clinical features of APL syndrome?
A
Venous thrombosis (arms/legs, ?PE) Arterial thrombosis (less common, strokes in young ppl) Pregnancy loss (2nd/3rd trimester) Livedo reticularis Thrombocytopenia Migraines Epilepsy
17
Q
What investigations may be appropriate in suspected APL syndrome?
A
ESR (normal)
ANA (-ve)
APTT (inc)
Coomb’s (+ve)
Anticardiolipin antibodies
-high titres on 2 occasions, >12wks apart
Lupus anticoagulant antibodies (+ve in 20%)
18
Q
What are the management options for APL syndrome?
A
Warfarin (target INR 3-4) - if hx of severe thrombosis Low dose aspirin Lifestyle advice -avoid prolonged immobilisation -oestrogen containing drugs LMWH & aspirin given in pregnancy -early delivery planned
19
Q
What is the long term prognosis of APL syndrome?
A
Poor
-1/3 have organ damage w/i 10yrs of diagnosis
20
Q
What is primary Sjogren’s syndrome?
A
Dry eyes (keratoconjunctivitis sicca) in absence of any autoimmune disease
21
Q
What is secondary Sjogren’s syndrome?
A
Presence of sicca sx alongside AI disease
-most commonly RA, SLE, scleroderma or polymyositis
22
Q
What phenotype is Sjogren’s associated with?
A
HLA-B8/DR3
23
Q
How does Sjogren’s present?
A
Dry eyes & mouth Salivary/parotid gland enlargement Vaginal dryness Systemic features -arthralgia -raynaud's -oesophageal motility issues
24
Q
What are the appropriate investigations in suspected Sjogren’s?
A
Schirmer tear test -filter paper placed inside lower eyelid -<1cm in 5mins = defective tear production Bloods -RF (raised) -ANA (raised) -anti-RO (+ve) -anti-LA (+ve)
25
What are the management options for Sjogren's?
Artificial tears
| Saliva-replacement
26
What is the prognosis for Sjogren's?
Good
-salivary & lacrimal function stabilises
1/6 develop Non-Hodgkin's B-cell lymphoma
27
What is systemic sclerosis?
Multisystem disease characterised by skin sclerosis & Reynaud's disease
28
What is the underlying pathophysiology of systemic sclerosis?
Perivascular fibrosis leads to ischaemic damage
- skin most commonly affected (dermal thickening)
- major organs also affected (lung, heart, oesophagus, kidneys)
29
What are the two main subtypes of systemic sclerosis?
Limited cutaneous scleroderma (70%)
| Diffuse cutaneous scleroderma (30%)
30
How do patients w/ limited cutaneous scleroderma present?
```
Long hx of Reynaud's & skin tightening at extremities
-microstomia if face involved
EARLY SX
-systemic sx (fatigue)
-GORD
-ulcers on digital tips
LATER SX
-oesophageal sx
-small bowel malabsorption
-pulmonary fibrosis/pulmonary HTN
```
31
What are the management options for limited cutaneous scleroderma?
Digital sympathectomy/vasodilators (Reynaud's)
Removal of calcinoses
Treatment of oesophageal problems
32
How do patients w/ diffuse cutaneous scleroderma present?
Short hx of Reynaud's w/ rapidly progressive skin sclerosis
-peaks at 2yrs
Severe systemic sx (lethargy, wt loss, anorexia)
33
What are the common complications of diffuse cutaneous scleroderma?
Myocardial fibrosis
Pulmonary fibrosis
Renal fibrosis
OCCUR W/I 3 YEARS
34
What are the management options for diffuse cutaneous scleroderma?
Immunosuppression
| Sympathectomy + vasodilators
35
What investigations are appropriate in limited cutaneous scleroderma?
Anti-centromere antibodies +ve (60%)
36
What investigations are appropriate in diffuse cutaneous scleroderma?
Anti-Scl-70 antibodies (40%)
| RNA polymerase antibodies
37
What is the prognosis of systemic sclerosis?
Highest mortality of all AI rheumatic diseases
| -limited cutaneous scleroderma has higher survival (70% at 10yrs)
38
What phenotype are Polymyositis & Dermatomyositis associated with?
HLA-B8/DR3 phenotype
39
What is Polymyositis?
Inflammation of striated muscle causing proximal muscle weakness
40
How does Polymyositis present?
```
Weakness in absence of any pain
-associated wasting
-insidious/acute onset
Malaise
Wt loss
Fever
Difficulty squatting/climbing stairs
```
41
What is the major complication of Polymyositis?
Respiratory failure due to respiratory muscle weakness
42
What is Dermatomyositis?
Polymyositis w/ associated skin involvement
- classic heliotropic rash
- associated periorbital oedema
- vasculitic patches over knucles (Gottron's papules)
43
Which conditions are Polymyositis/Dermatomyositis associated with?
SLE
RA
Systemic sclerosis
Various malignancies
44
What investigations are appropriate in suspected Polymyositis/Dermatomyositis?
```
Bloods
-CK (raised)
-ESR (rarely raised)
-ANA (+ve)
-RF (50% +ve)
-Myositis specific antibodies
Electromyography
MRI
Needle muscle biopsy
Malignancy screen
```
45
What are the management options for Polymyositis/Dermatomyositis?
Prednisolone/DMARDs
| IVIG therapy
46
What is Inclusion Body Myositis?
Condition affecting white males >50yrs w/ insidious onset of proximal & distal muscle wasting
-may be asymmetrical
47
What investigations are appropriate in suspected Inclusion Body Myositis?
ANA (sometimes +ve)
Myositis specific antigens (not +ve)
Muscle biopsy
48
What is the prognosis of Inclusion Body Myositis?
Progressive
| Rarely responds to prednislone/DMARD
49
What are Polymalgia Rheumatic & Giant Cell Arteritis?
Common systemic disease of elderly
| -types of large vessel vasculitis associated w/ giant cell arteritis on temporal artery biopsy
50
How do PMR & GCA relate?
15-30% of pts w/ PMR develop CGA
| 50-70% of pts w/ GCA develop PMR
51
How does PMR present?
Pt always <50yrs
Sudden onset severe pain & stiffness in shoulders/neck/hips/lumbar spine
-worse in morning, lasts >30mins
Systemic sx (fatigue, fever, wt loss)
52
What are the signs on examination of PMR?
Muscles tender to palpation
| -especially in upper arm
53
What sx are required for the diagnosis of PMR?
Bilateral shoulder/pelvic girdle aching alongside morning stiffness/evidence of acute phase response present >2wks
54
How does GCA present?
Severe headaches
| Scalp/temporal tenderness (alongside PMR)
55
What causes the sx of PMR?
Synovial & peri-articular inflammation
56
What causes the sx of GCA?
Granulomatous vasculitis of medium & larger arteries
57
What are the signs on examination of GCA?
Tenderness/swelling of one/both temporal arteries
| -inflammation of overlying scalp
58
What is the main complication of GCA?
Sudden painless loss of vision
| -due to ischaemic of optic nerve
59
What investigations are appropriate in suspected PMR/GCA?
```
Normocytic/normochromic anaemia
ESR/CRP (raised)
ALP/GGT (raised)
RF/ANA/anti-CCP (-ve)
CK (-ve)
MRI/USS (peri-articular inflammation)
```
60
What is the definitive diagnostic test for GCA?
Temporal artery biopsy
- intimal hypertrophy w/ giant cells & inflam infiltrate
- skip lesions occur
61
What are the management options for PMR/GCA?
```
Oral prednisolone (high dose initially)
-PMR = 15mg OD
-GCA = 60mg OD (40 mg OD if no visual sx)
Bone protection & PPIs
```
62
How does PMR/GCA respond to prednisolone?
Response to steroids usually rapid
- if no response w/i 48hrs consider alternative dx
- dose reduction in line w/ disease response
63
How long is treatment required for PMR/GCA?
```
PMR = 2yrs
GCA = 5yrs
```
64
What complication should all patients w/ GCA be screened for?
Aortic/large vessel involvement
65
What systemic sx suggest a possible vasculitic condition?
```
General (malaise, fever, wt loss, myalgia, arthralgia)
Skin (palpable purpura, ulceration)
GI (mouth ulcers, abdo pain, diarrhoea)
Resp (haemoptysis, dyspnoea)
ENT (epistaxis, crusting)
Cardiac (chest pain)
Neuropathies
```
66
How can vasculitic conditions be classified?
```
Primary
Secondary
-malignancy
-infection
-CTDs (SLE most common)
According to size of vessel
```
67
What are the vasculitic conditions affecting large arteries?
GCA
Tajayasu's arthritis
-young adults w/ upper limb claudication/stroke
68
What are the vasculitic conditions affecting medium arteries?
Classic Polyarteritis Nodosa
-multi-systemic sx, multiple microaneurysms
Kawasaki Disease
-fever, rash, lymphandeopathy, palmar erythema in children
-main complication is coronary artery aneurysm
69
What are the vasculitic conditions affecting small vessels (ANCA +ve)?
```
Wegener's granulomatosis
-affects lung, kidneys, ENT systems
-granuloma formation on biopsies
Churg-Strauss syndrome
-late onset asthma/atopy
-cardio-pulmonary involvement
Microscopic Polyangiitis
-pulmonary-real syndrome (haemoptyiss/haematuria)
```
70
What are the vasculitic conditions affecting small vessels (leucocytoclastic)?
HSP
Cryoglobulinaemia
-associated w/ hep C
-rash, arthralgia, neuropathy
71
What are the appropriate investigations in suspected vasculitic conditions?
```
BP
Urine dip (MC&S)
Bloods
-FBC (leukocytosis in 1o disease, leukopenia in CTD)
-LFTs (hepatitis is common 2o cause)
-inflammatory markers
-immunology
Tissue biopsy
```
72
What are the management options for vasculitic conditions?
```
Depends on size of vessel involved
Corticosteroids
-prolonged dose reduction over 12mo
Cyclophosphamide
-ANCA +ve disease
-can lead to infertility
IVIG (Kawasaki's)
Plasma exchange (if life threatening)
```
73
What is Synovial Fluid Analysis used for?
Diagnosis of acute bacterial sepsis OR crystal associated disease
-often combined w/ corticosteroid injection
74
How can Synovial Fluid Analysis aid diagnosis?
Colour
-turbid in inflammation, analyse w/ urgent gram stain & culture
Viscosity
-decreases in inflammation
Blood Stained
-due to trauma, severe inflammation, bleeding tendencies
-if non-uniform indicates traumatic aspiration
75
What FBC abnormalities may be present in rheumatological disease?
```
Thrombocytopenia
-disease activity in SLE/APL
-Felty's syndrome in RA
-methotrexate
Leukopenia
-lymphopenia in lupus
-leucocytosis in flare SLE
Anaemia
-chronic disease
-iron deficiency
-megaloblastic anaemia
-haemolysis
```
76
What LFT abnormalities may be present in rheumatological disease?
ALP
| -elevated in RA/polymyositis/bone disease
77
What U&Es abnormalities may be present in rheumatological disease?
Abnormal due to glomerulonephritis in CTDs
| -urine dip better indicator of pathology
78
What RF abnormalities may be present in rheumatological disease?
Positive in 70% of RA pts (78% specific)
| -raised in SLE/Sjogrens
79
What is RF?
IgM antibody against IGG, forms immune complexes contributing to disease process
- indicates worse prognosis
- transiently raised in infections
80
What anti-CCP abnormalities may be present in rheumatological disease?
Positive in 60% of RA pts (90-98% specific)
- positive in 40% of pts that are RF -ve
- may precede onset of RA by 12yrs
- indicates worse prognosis if raised at presentation
81
What ANA abnormalities may be present in rheumatological disease?
Titres >1 in 80 = +ve BUT >320 = AI disease
- useful to rule out lupus (nearly 100% ANA +ve)
- raised in RA, Sjogren's, scleroderma, polymyositis
82
What anti ds-DNA abnormalities may be present in rheumatological disease?
Specific for lupus
- only present in severe disease
- marker of poor prognosis
- changes w/ disease activity
83
What extractable nuclear antigen abnormalities may be present in rheumatological disease?
Anti-SM specific to SLE
Anti-Ro & Anti-La (SS1 & SS2)
-present in Sjogren's
Can indicate specific tissue involves
-anti-Jo1 in myositis = pulmonary fibrosis
-anti-topoisomerase in scleroderma = pulmonary/cardiac involvement
